Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: A multicenter experience of 1499 clinical cases

Bixia Xiang, Hongbo Zhu, Yiping Shen, David T. Miller, Kangmo Lu, Xiaofeng Hu, Hans C. Andersson, Tarachandra M. Narumanchi, Yueying Wang, Jose E. Martinez, Bai Lin Wu, Peining Li, Marilyn M. Li, Tian Jian Chen, Yao Shan Fan

Research output: Contribution to journalArticle

56 Scopus citations

Abstract

To assess the clinical utility of genome-wide oligonucleotide arrays in diagnosis of mental retardation and to address issues relating to interpretation of copy number changes (CNCs), we collected results on a total of 1499 proband patients from five academic diagnostic laboratories where the same 44K array platform has been used. Three of the five laboratories achieved a diagnostic yield of 14% and the other two had a yield of 11 and 7%, respectively. Approximately 80% of the abnormal cases had a single segment deletion or duplication, whereas the remaining 20% had a compound genomic imbalance involving two or more DNA segments. Deletion of 16p11.2 is a common microdeletion syndrome associated with mental retardation. We classified pathogenic CNCs into six groups according to the structural changes. Our data have demonstrated that the 44K platform provides a reasonable resolution for clinical use and a size of 300 kb can be used as a practical cutoff for further investigations of the clinical relevance of a CNC detected with this platform. We have discussed in depth the issues associated with the clinical use of array CGH and provided guidance for interpretation, reporting, and counseling of test results based on our experience.

Original languageEnglish (US)
Pages (from-to)204-212
Number of pages9
JournalJournal of Molecular Diagnostics
Volume12
Issue number2
DOIs
StatePublished - Mar 2010

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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    Xiang, B., Zhu, H., Shen, Y., Miller, D. T., Lu, K., Hu, X., Andersson, H. C., Narumanchi, T. M., Wang, Y., Martinez, J. E., Wu, B. L., Li, P., Li, M. M., Chen, T. J., & Fan, Y. S. (2010). Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: A multicenter experience of 1499 clinical cases. Journal of Molecular Diagnostics, 12(2), 204-212. https://doi.org/10.2353/jmoldx.2010.090115